Canonical Allele Identifier: CA386493037

Gene: PAH

Linked Data

• ClinVar Variation Id: 937913
• ClinVar RCV Id: RCV001207037
• dbSNP Id: rs1874539947
• MyVariant Identifiers: chr12:g.103234240G>A (hg19) ; chr12:g.102840462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840462G>A , CM000674.2:g.102840462G>A	GRCh38
NC_000012.11:g.103234240G>A , CM000674.1:g.103234240G>A	GRCh37
NC_000012.10:g.101758370G>A	NCBI36
NG_008690.1:g.82141C>T
NG_008690.2:g.122949C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1253C>T MANE Select	ENSP00000448059.1:p.Thr418Ile
ENST00000307000.7:c.1238C>T	ENSP00000303500.2:p.Thr413Ile
ENST00000551114.2:n.915C>T
ENST00000553106.5:c.1253C>T	ENSP00000448059.1:p.Thr418Ile
ENST00000635477.1:c.357C>T
ENST00000635528.1:n.768C>T
NM_000277.1:c.1253C>T	NP_000268.1:p.Thr418Ile
XM_011538422.1:c.1196C>T	XP_011536724.1:p.Thr399Ile
NM_000277.2:c.1253C>T	NP_000268.1:p.Thr418Ile
NM_001354304.1:c.1253C>T	NP_001341233.1:p.Thr418Ile
NM_000277.3:c.1253C>T MANE Select	NP_000268.1:p.Thr418Ile
NM_001354304.2:c.1253C>T	NP_001341233.1:p.Thr418Ile